Mutagenetix > Incidental Mutation

Incidental Mutation 'R7589:Nkx1-2'

587310

Institutional Source

Beutler Lab

Gene Symbol

Nkx1-2

Ensembl Gene

ENSMUSG00000048528

Gene Name

NK1 homeobox 2

Synonyms

Sax1, Nkx-1.2, Nkx-1.1

MMRRC Submission

045637-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R7589 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132197968-132201366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132201204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 18 (I18V)

Ref Sequence

ENSEMBL: ENSMUSP00000052778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054562] [ENSMUST00000124096]

AlphaFold

P42580

Predicted Effect

probably damaging
Transcript: ENSMUST00000054562
AA Change: I18V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052778
Gene: ENSMUSG00000048528
AA Change: I18V

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
low complexity region	88	96	N/A	INTRINSIC
low complexity region	127	152	N/A	INTRINSIC
HOX	156	218	7.24e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	G	7: 41,276,396 (GRCm39)	C700G	probably damaging	Het
4930486L24Rik	T	C	13: 60,990,747 (GRCm39)	K316E	probably damaging	Het
Akap6	A	T	12: 53,188,846 (GRCm39)	K2087*	probably null	Het
Alpk2	A	T	18: 65,433,144 (GRCm39)	H1320Q	probably damaging	Het
Aox1	A	T	1: 58,080,643 (GRCm39)	R31W	probably damaging	Het
Asnsd1	G	T	1: 53,387,126 (GRCm39)	A167E	probably benign	Het
Atg14	T	C	14: 47,780,547 (GRCm39)	D409G	probably benign	Het
Atp13a3	T	A	16: 30,163,433 (GRCm39)	E574D	probably benign	Het
Bicd1	A	T	6: 149,415,165 (GRCm39)	Y626F	possibly damaging	Het
Cdc5l	C	T	17: 45,721,707 (GRCm39)	R521Q	probably benign	Het
Dglucy	T	C	12: 100,807,660 (GRCm39)	F160L	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fmo9	T	A	1: 166,501,997 (GRCm39)	K209N	possibly damaging	Het
Gsdmc2	C	A	15: 63,696,892 (GRCm39)	L426F	probably damaging	Het
Hip1	T	C	5: 135,443,165 (GRCm39)	D956G	probably benign	Het
Kif28	C	T	1: 179,558,965 (GRCm39)	V248I	probably benign	Het
Klk10	T	C	7: 43,433,051 (GRCm39)	V149A	probably benign	Het
Krt40	G	T	11: 99,430,983 (GRCm39)	N255K	probably damaging	Het
Map4k4	T	A	1: 40,060,251 (GRCm39)	Y1013*	probably null	Het
Mcur1	T	C	13: 43,705,101 (GRCm39)	Y185C	probably damaging	Het
Mzt1	T	C	14: 99,273,948 (GRCm39)		probably null	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Ofcc1	T	A	13: 40,408,960 (GRCm39)	Q155L	probably benign	Het
Or1ad1	A	T	11: 50,875,857 (GRCm39)	M110L	probably damaging	Het
Or4a2	A	G	2: 89,248,724 (GRCm39)	V11A	possibly damaging	Het
Or4k38	T	C	2: 111,165,719 (GRCm39)	K235E	probably damaging	Het
Or51q1	T	C	7: 103,628,998 (GRCm39)	Y200H	probably damaging	Het
Or9s15	G	A	1: 92,524,781 (GRCm39)	R180H	probably benign	Het
Prnp	A	G	2: 131,778,786 (GRCm39)	D146G	probably benign	Het
Rhbdf1	C	T	11: 32,162,903 (GRCm39)	V455I	probably benign	Het
Rnf6	G	A	5: 146,148,239 (GRCm39)	R260W	possibly damaging	Het
Rtl1	T	C	12: 109,560,279 (GRCm39)	N520S	possibly damaging	Het
Setbp1	A	T	18: 78,899,707 (GRCm39)	M1320K	probably benign	Het
Slc39a8	A	G	3: 135,590,123 (GRCm39)	T338A	probably damaging	Het
Tcf4	A	G	18: 69,815,890 (GRCm39)	*693W	probably null	Het
Ttc8	A	T	12: 98,942,696 (GRCm39)	D412V	probably damaging	Het
Ush2a	G	T	1: 188,275,046 (GRCm39)	A1840S	probably benign	Het
Vmn1r60	A	T	7: 5,547,688 (GRCm39)	S137R		Het
Vmn1r91	T	A	7: 19,835,802 (GRCm39)	H240Q	probably benign	Het
Vmn2r107	A	T	17: 20,595,634 (GRCm39)	H729L	probably benign	Het
Yme1l1	C	T	2: 23,050,274 (GRCm39)	T35I	probably benign	Het
Zfp292	A	G	4: 34,806,777 (GRCm39)	V2094A	probably damaging	Het
Zfp934	A	T	13: 62,666,130 (GRCm39)	N202K		Het

Other mutations in Nkx1-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01939:Nkx1-2	APN	7	132,201,203 (GRCm39)	missense	probably damaging	1.00
R0894:Nkx1-2	UTSW	7	132,201,042 (GRCm39)	missense	probably null	0.98
R3782:Nkx1-2	UTSW	7	132,199,161 (GRCm39)	missense	probably damaging	1.00
R4248:Nkx1-2	UTSW	7	132,201,209 (GRCm39)	frame shift	probably null
R6376:Nkx1-2	UTSW	7	132,201,240 (GRCm39)	missense	probably damaging	0.98
R9656:Nkx1-2	UTSW	7	132,201,228 (GRCm39)	nonsense	probably null
R9767:Nkx1-2	UTSW	7	132,199,402 (GRCm39)	missense	probably benign	0.03
Z1177:Nkx1-2	UTSW	7	132,201,150 (GRCm39)	missense	probably benign	0.07
Z1177:Nkx1-2	UTSW	7	132,199,351 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACATTCTTACCAGGGGTCTC -3'
(R):5'- AGTGCCAATCCTCAAGCAGC -3'

Sequencing Primer
(F):5'- GTCTCCTGTGACCCGATTGG -3'
(R):5'- TACAGCTTCACTTGGCGG -3'

Posted On

2019-10-24